Variant report

Variant	nsv1058131
Chromosome Location	chr16:80967367-80998523
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
2	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
3	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
4	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:
5	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
6	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
7	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
8	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
9	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
10	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
11	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
12	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
13	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
14	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
15	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
16	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
17	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
18	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
19	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
20	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
21	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
22	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
23	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
24	chr16:80992093..80994381-chr16:81038938..81040889,2	MCF-7	breast:
25	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
26	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
27	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
28	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
29	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
30	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221944	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000166451	chromatin interactions

Extended variants
information (count: 1656 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1656 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370522318	chr16:80967378-80967379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529129628	chr16:80967405-80967406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7204512	chr16:80967436-80967437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs367676875	chr16:80967476-80967477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs16954316	chr16:80967548-80967549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530806476	chr16:80967562-80967563	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552499583	chr16:80967570-80967571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs16954319	chr16:80967607-80967608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548422220	chr16:80967639-80967640	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs375279796	chr16:80967660-80967661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568235141	chr16:80967694-80967695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141862292	chr16:80967763-80967764	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546711304	chr16:80967799-80967800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368188244	chr16:80967800-80967801	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs35369862	chr16:80967812-80967813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs398078782	chr16:80967813-80967814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs397761269	chr16:80967814-80967815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568297170	chr16:80967848-80967849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535688513	chr16:80967896-80967897	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs111517086	chr16:80967933-80967934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs80181133	chr16:80967950-80967951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539752341	chr16:80967962-80967963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs17737109	chr16:80967974-80967975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139301314	chr16:80967995-80967996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189409317	chr16:80968017-80968018	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551823889	chr16:80968028-80968029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs77363997	chr16:80968071-80968072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs193030402	chr16:80968072-80968073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544464751	chr16:80968079-80968080	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs149941727	chr16:80968089-80968090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs533214305	chr16:80968099-80968100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544991268	chr16:80968135-80968136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564477816	chr16:80968139-80968140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527817192	chr16:80968169-80968170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62054213	chr16:80968203-80968204	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs115542099	chr16:80968206-80968207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144938338	chr16:80968270-80968271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78216383	chr16:80968283-80968284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148645147	chr16:80968360-80968361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540094919	chr16:80968363-80968364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536543328	chr16:80968372-80968373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142045670	chr16:80968392-80968393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185316547	chr16:80968400-80968401	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556508136	chr16:80968472-80968473	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147775077	chr16:80968523-80968524	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60421395	chr16:80968536-80968537	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538860427	chr16:80968543-80968544	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572257606	chr16:80968548-80968549	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189978649	chr16:80968603-80968604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181572418	chr16:80968607-80968608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80966400-80971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80966600-80967600	Enhancers	HUVEC	blood vessel
3	chr16:80966800-80968000	Weak transcription	NH-A	brain
4	chr16:80966800-80968200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:80966800-80971600	Weak transcription	Right Ventricle	heart
6	chr16:80967000-80967800	Weak transcription	Right Atrium	heart
7	chr16:80967000-80968200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:80967000-80970200	Weak transcription	NHDF-Ad	bronchial
9	chr16:80967000-80970400	Weak transcription	NHLF	lung
10	chr16:80967000-80971000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:80967000-80971000	Weak transcription	Pancreas	Pancrea
12	chr16:80967000-80971000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:80967000-80971200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:80967000-80971400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:80967000-80971600	Weak transcription	Adipose Nuclei	Adipose
16	chr16:80967000-80971600	Weak transcription	Ovary	ovary
17	chr16:80967000-80971600	Enhancers	Hela-S3	cervix
18	chr16:80967000-80972000	Weak transcription	Aorta	Aorta
19	chr16:80967000-80972000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:80967200-80967400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:80967200-80967600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:80967200-80970200	Weak transcription	Osteobl	bone
23	chr16:80967200-80971000	Weak transcription	Esophagus	oesophagus
24	chr16:80967200-80971400	Weak transcription	NHEK	skin
25	chr16:80967200-80971600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr16:80967200-80971600	Weak transcription	Fetal Heart	heart
27	chr16:80967400-80970000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:80967600-80968600	Weak transcription	HUVEC	blood vessel
29	chr16:80967800-80968000	Enhancers	Right Atrium	heart
30	chr16:80968000-80968600	Enhancers	NH-A	brain
31	chr16:80968200-80968600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:80968200-80969000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr16:80968400-80968600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr16:80968400-80968600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr16:80968400-80968600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr16:80968600-80970800	Weak transcription	NH-A	brain
37	chr16:80968600-80971600	Enhancers	HUVEC	blood vessel
38	chr16:80970000-80971600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:80970200-80971600	Enhancers	NHDF-Ad	bronchial
40	chr16:80970200-80972600	Enhancers	Fetal Stomach	stomach
41	chr16:80970200-80972800	Enhancers	Osteobl	bone
42	chr16:80970400-80971800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr16:80970400-80972200	Enhancers	NHLF	lung
44	chr16:80970400-80972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:80970400-80972800	Enhancers	Fetal Muscle Leg	muscle
46	chr16:80970800-80971000	Enhancers	NH-A	brain
47	chr16:80971000-80971400	Weak transcription	NH-A	brain
48	chr16:80971000-80971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:80971000-80971600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:80971000-80971800	Enhancers	Rectal Smooth Muscle	rectum

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